Cellosaurus cell line GM25247 (CVCL

Cross-references
Cell line name	GM25247
Accession	CVCL_CX83
Resource Identification Initiative	To cite this cell line use: GM25247 (RRID:CVCL_CX83)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:25928; WDR73; Simple; p.Phe296Leufs*26 (c.888delT); ClinVar=VCV000225244; Zygosity=Heterozygous (PubMed=26070982).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_CX84 ! GM25248
Sex of cell	Male
Age at sampling	28Y
Category	Transformed cell line
Publications	PubMed=26070982; DOI=10.1093/brain/awv153; PMCID=PMC4511861 Jinks R.N., Puffenberger E.G., Baple E.L., Harding B., Crino P., Fogo A.B., Wenger O., Xin B.-Z., Koehler A.E., McGlincy M.H., Provencher M.M., Smith J.D., Tran L., Al Turki S., Chioza B.A., Cross H.E., Harlalka G.V., Hurles M.E., Maroofian R., Heaps A.D., Morton M.C., Stempak L., Hildebrandt F., Sadowski C.E., Zaritsky J., Campellone K.G., Morton D.H., Wang H., Crosby A., Strauss K.A. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain 138:2173-2190(2015)
Cell line collections (Providers)	Coriell; GM25247
Encyclopedic resources	Wikidata; Q54853847
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	10